Dopachrome tautomerase variants in patients with oculocutaneous albinism
Dopachrome tautomerase variants in patients with oculocutaneous albinism
About this item
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Author / Creator
Pennamen, Perrine , Tingaud-Sequeira, Angèle , Gazova, Iveta , Keighren, Margaret , McKie, Lisa , Marlin, Sandrine , Gherbi Halem, Souad , Kaplan, Josseline , Delevoye, Cédric , Lacombe, Didier , Plaisant, Claudio , Michaud, Vincent , Lasseaux, Eulalie , Javerzat, Sophie , Jackson, Ian and Arveiler, Benoit
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Albinism is a clinically and genetically heterogeneous condition. Despite analysis of the 20 known genes, ~30% patients remain unsolved. We aimed to identify new genes involved in albinism.
Methods
We sequenced a panel of genes with known or predicted involvement in melanogenesis in 230 unsolved albinism patients.
Results
We...
Alternative Titles
Full title
Dopachrome tautomerase variants in patients with oculocutaneous albinism
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03404561v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03404561v1
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-00997-8
